Familial hypercholesterolemiaassociated variants in ClinVar

http://hdl.handle.net/10400.18/5882

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Authors

Chora, Joana R.

Iacocca, Michael A.

Freiberger, Tomáš

Leigh, Sarah E.

Defesche, Joep C.

DiStefano, Marina T.

Santos, Raul D.

Humphries, Steve E.

Abstract(s)

Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk if untreated; High heterozygote prevalence (1/250-500); Homozygous rare (1/300 000-1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.

Keywords

Familial Hypercholesterolemia Doenças Cardio e Cérebro-vasculares

URI

http://hdl.handle.net/10400.18/5882

Collections

DPSPDNT - Apresentações orais em reuniões nacionais